ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.1268C>T (p.Pro423Leu)

gnomAD frequency: 0.00001  dbSNP: rs1214168989
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002372384 SCV002687230 likely benign Cardiovascular phenotype 2022-09-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
GenomeConnect, ClinGen RCV000844953 SCV000986778 not provided Brittle cornea syndrome 1 no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 10/16/2017 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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